Actionable Pharmacogenetic Variation in the Slovenian Genomic Database

por Hočevar, Keli, Maver, Aleš, Peterlin, Borut
Publicado 2019

Whole-Genome Sequencing in Diagnostics of Selected Slovenian Undiagnosed Patients with Rare Disorders

por Bergant, Gaber, Maver, Aleš, Peterlin, Borut
Publicado 2021

Assessment of pathogenic variation in gynecologic cancer genes in a national cohort

por Kotnik, Urška, Maver, Aleš, Peterlin, Borut, Lovrecic, Luca
Publicado 2023

DNA Methylation Profiles in Whole Blood of Huntington's Disease Patients

por Zadel, Maja, Maver, Aleš, Kovanda, Anja, Peterlin, Borut
Publicado 2018

Improving diagnostics of rare genetic diseases with NGS approaches

por Vinkšel, Mateja, Writzl, Karin, Maver, Aleš, Peterlin, Borut
Publicado 2021

Integration of Data from Omic Studies with the Literature-Based Discovery towards Identification of Novel Treatments for Neovascularization in Diabetic Retinopathy

por Maver, Ales, Hristovski, Dimitar, Rindflesch, Thomas C., Peterlin, Borut
Publicado 2013

Case Report: Non-ossifying fibromas with pathologic fractures in a patient with NONO-associated X-linked syndromic intellectual developmental disorder

por Writzl, Karin, Mavčič, Blaž, Maver, Aleš, Hodžić, Alenka, Peterlin, Borut
Publicado 2023

Expression Signature as a Biomarker for Prenatal Diagnosis of Trisomy 21

por Volk, Marija, Maver, Aleš, Lovrečić, Luca, Juvan, Peter, Peterlin, Borut
Publicado 2013

Transcriptome Profiling Uncovers Potential Common Mechanisms in Fetal Trisomies 18 and 21

por Volk, Marija, Maver, Aleš, Hodžić, Alenka, Lovrečić, Luca, Peterlin, Borut
Publicado 2017

Transcriptome study of receptive endometrium in overweight and obese women shows important expression differences in immune response and inflammatory pathways in women who do not c...

por Salamun, Vesna, Bokal, Eda Vrtacnik, Maver, Ales, Papler, Tanja Burnik
Publicado 2021

Transcriptomic signatures for human male infertility

por Hodžić, Alenka, Maver, Aleš, Zorn, Branko, Petrovič, Daniel, Kunej, Tanja, Peterlin, Borut
Publicado 2023

Diagnostic outcomes of exome sequencing in patients with syndromic or non-syndromic hearing loss

por Likar, Tina, Hasanhodžić, Mensuda, Teran, Nataša, Maver, Aleš, Peterlin, Borut, Writzl, Karin
Publicado 2018

No Specific Gene Expression Signature in Human Granulosa and Cumulus Cells for Prediction of Oocyte Fertilisation and Embryo Implantation

por Burnik Papler, Tanja, Vrtacnik Bokal, Eda, Lovrecic, Luca, Kopitar, Andreja Natasa, Maver, Ales
Publicado 2015

Transcriptomic Analysis and Meta-Analysis of Human Granulosa and Cumulus Cells

por Burnik Papler, Tanja, Vrtacnik Bokal, Eda, Maver, Ales, Kopitar, Andreja Natasa, Lovrečić, Luca
Publicado 2015

Diagnostic yield of exome sequencing in myopathies: Experience of a Slovenian tertiary centre

por Babić Božović, Ivana, Maver, Aleš, Leonardis, Lea, Meznaric, Marija, Osredkar, Damjan, Peterlin, Borut
Publicado 2021

Genetic Variation in Circadian Rhythm Genes CLOCK and ARNTL as Risk Factor for Male Infertility

por Hodžić, Alenka, Ristanović, Momčilo, Zorn, Branko, Tulić, Cane, Maver, Aleš, Novaković, Ivana, Peterlin, Borut
Publicado 2013

Stargardt-like Clinical Characteristics and Disease Course Associated with Variants in the WDR19 Gene

por Sajovic, Jana, Meglič, Andrej, Volk, Marija, Maver, Aleš, Jarc-Vidmar, Martina, Hawlina, Marko, Fakin, Ana
Publicado 2023

Genetic variation in leptin and leptin receptor genes is a risk factor for idiopathic recurrent spontaneous abortion

por Müller, Andrijana, Wagner, Jasenka, Hodžić, Alenka, Maver, Aleš, Škrlec, Ivana, Heffer, Marija, Zibar, Lada, Peterlin, Borut
Publicado 2016

MON-220 Androstendione Affects Endometrial Gene Expression Profile During Window of Implantation in Obese Infertile Women with PCOS

por Jensterle Sever, Mojca, Salamun, Vesna, Vrtacnik-Bokal, Eda, Peterlin, Borut, Maver, Ales, Moloku, Ornela, Janez, Andrej
Publicado 2019

Multiple Sclerosis patients carry an increased burden of exceedingly rare genetic variants in the inflammasome regulatory genes

por Vidmar, Lovro, Maver, Ales, Drulović, Jelena, Sepčić, Juraj, Novaković, Ivana, Ristič, Smiljana, Šega, Saša, Peterlin, Borut
Publicado 2019